Canonical Allele Identifier: CA397724242
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126158A>G (hg19) chr17:g.7222839A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222839A>G , CM000679.2:g.7222839A>G GRCh38
NC_000017.10:g.7126158A>G , CM000679.1:g.7126158A>G GRCh37
NC_000017.9:g.7066882A>G NCBI36
NG_007975.1:g.8006A>G
NG_008391.2:g.2212T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1051A>G MANE Select ENSP00000349297.5:p.Thr351Ala
ENST00000322910.9:c.*1006A>G ENSP00000325395.5:n.*1006A>G
ENST00000350303.9:c.985A>G ENSP00000344152.5:p.Thr329Ala
ENST00000356839.9:c.1051A>G ENSP00000349297.5:p.Thr351Ala
ENST00000543245.6:c.1120A>G ENSP00000438689.2:p.Thr374Ala
ENST00000578824.5:n.200A>G
ENST00000582379.1:n.435A>G
ENST00000583858.5:c.80A>G
NM_000018.3:c.1051A>G NP_000009.1:p.Thr351Ala
NM_001033859.2:c.985A>G NP_001029031.1:p.Thr329Ala
NM_001270447.1:c.1120A>G NP_001257376.1:p.Thr374Ala
NM_001270448.1:c.823A>G NP_001257377.1:p.Thr275Ala
XM_006721516.2:c.1051A>G XP_006721579.2:p.Thr351Ala
XM_011523829.1:c.1051A>G XP_011522131.1:p.Thr351Ala
XM_011523830.1:c.1051A>G XP_011522132.1:p.Thr351Ala
XR_934021.1:n.1158A>G
XR_934022.1:n.1158A>G
XR_934023.1:n.1158A>G
XM_006721516.3:c.1051A>G XP_006721579.2:p.Thr351Ala
XM_011523829.2:c.1051A>G XP_011522131.1:p.Thr351Ala
XM_011523830.2:c.1051A>G XP_011522132.1:p.Thr351Ala
XM_024450741.1:c.1051A>G XP_024306509.1:p.Thr351Ala
XR_934021.2:n.1110A>G
XR_934022.2:n.1110A>G
XR_934023.2:n.1110A>G
NM_000018.4:c.1051A>G MANE Select NP_000009.1:p.Thr351Ala
NM_001033859.3:c.985A>G NP_001029031.1:p.Thr329Ala
NM_001270447.2:c.1120A>G NP_001257376.1:p.Thr374Ala
NM_001270448.2:c.823A>G NP_001257377.1:p.Thr275Ala
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